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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Thoracomelic dysplasia
Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type
Dentin dysplasia type I
DD-I · DTDP1
Dentin dysplasia type II
DD-II · DTDP2
Thanatophoric dysplasia type 1
TD1 · Thanatophoric dwarfism type 1
Thanatophoric dysplasia type 2
Cloverleaf skull-micromelic bone dysplasia syndrome · TD2
Thoracolaryngopelvic dysplasia
Barnes syndrome